ClinVar Miner

List of variants in gene CYP1B1 reported as likely pathogenic for congenital glaucoma

Included ClinVar conditions (13):
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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.1102C>T (p.Arg368Cys) rs72480442 0.00021
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760 0.00018
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_000104.4(CYP1B1):c.1198C>T (p.Pro400Ser) rs768047511 0.00002
NM_000104.4(CYP1B1):c.1267A>T (p.Asn423Tyr) rs104893629 0.00001
NM_000104.4(CYP1B1):c.1A>G (p.Met1Val) rs757520959 0.00001
NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu) rs529769268 0.00001
NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser) rs777678299 0.00001
NM_000104.4(CYP1B1):c.1027CTC[2] (p.Leu345del)
NM_000104.4(CYP1B1):c.1043+2_1043+6del
NM_000104.4(CYP1B1):c.1044-2A>G rs1389588817
NM_000104.4(CYP1B1):c.1064G>C (p.Arg355Pro)
NM_000104.4(CYP1B1):c.1075G>T (p.Glu359Ter)
NM_000104.4(CYP1B1):c.1081G>T (p.Asp361Tyr) rs906925939
NM_000104.4(CYP1B1):c.1099dup (p.Asp367fs) rs2125314883
NM_000104.4(CYP1B1):c.1111dup (p.Cys371fs)
NM_000104.4(CYP1B1):c.1133T>A (p.Leu378Gln)
NM_000104.4(CYP1B1):c.1140dup (p.Val381fs)
NM_000104.4(CYP1B1):c.1153C>T (p.Leu385Phe)
NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del) rs751768343
NM_000104.4(CYP1B1):c.158del (p.Gly53fs)
NM_000104.4(CYP1B1):c.170G>A (p.Trp57Ter)
NM_000104.4(CYP1B1):c.256C>T (p.Gln86Ter)
NM_000104.4(CYP1B1):c.277_306delinsGG (p.Pro93fs)
NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr) rs72549389
NM_000104.4(CYP1B1):c.346_363del (p.Asp116_Ala121del)
NM_000104.4(CYP1B1):c.349C>T (p.Arg117Trp) rs944452644
NM_000104.4(CYP1B1):c.350G>A (p.Arg117Gln) rs1450783755
NM_000104.4(CYP1B1):c.490C>T (p.Gln164Ter)
NM_000104.4(CYP1B1):c.575A>T (p.Asp192Val)
NM_000104.4(CYP1B1):c.58C>T (p.Gln20Ter)
NM_000104.4(CYP1B1):c.710C>A (p.Ala237Glu) rs2125316074
NM_000104.4(CYP1B1):c.783C>A (p.Phe261Leu) rs1558603396
NM_000104.4(CYP1B1):c.783C>G (p.Phe261Leu)
NM_000104.4(CYP1B1):c.794dup (p.Asn265fs)
NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer) rs766425037
NM_000104.4(CYP1B1):c.872A>G (p.Asp291Gly)
NM_000104.4(CYP1B1):c.975_978del (p.Asp326fs) rs1573274915
NM_000104.4(CYP1B1):c.994C>T (p.Gln332Ter)

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